CARMIL1

CARMIL1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3LK2, 3LK3
Identifiers
Aliases	CARMIL1, CARMIL, CARMIL1a, LRRC16, dJ501N12.1, dJ501N12.5, LRRC16A, leucine rich repeat containing 16A, capping protein regulator and myosin 1 linker 1
External IDs	OMIM: 609593; MGI: 1915982; HomoloGene: 9757; GeneCards: CARMIL1; OMA:CARMIL1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	25,620,530 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	24,464,778 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; Achilles tendon; ; mucosa of transverse colon; ; left coronary artery; ; right hemisphere of cerebellum; ; thoracic aorta; ; Descending thoracic aorta; ; ascending aorta; ; testicle;
	Top expressed in
	zygote; ; secondary oocyte; ; molar; ; saccule; ; primary oocyte; ; otic vesicle; ; spermatid; ; vestibular sensory epithelium; ; otic placode; ; medullary collecting duct;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein-containing complex binding; protein binding;
Cellular component	filamentous actin; cell projection; membrane; plasma membrane; macropinosome; cell leading edge; extracellular exosome; cytoskeleton; nucleus; lamellipodium; cytoplasm; cytosol; nuclear speck;
Biological process	barbed-end actin filament uncapping; positive regulation of lamellipodium organization; negative regulation of barbed-end actin filament capping; positive regulation of actin filament polymerization; ruffle organization; actin filament organization; positive regulation of cell migration; actin filament network formation; blood coagulation; positive regulation of substrate adhesion-dependent cell spreading; macropinocytosis; urate metabolic process; cell migration; positive regulation of stress fiber assembly; lamellipodium assembly;
	Sources:Amigo / QuickGO
Orthologs
	55604
	68732
	ENSG00000079691
	ENSMUSG00000021338
	Q5VZK9
	Q6EDY6
	NM_001173977; NM_017640
	NM_026825; NM_177807; NM_001311122; NM_001384122
	NP_001167448; NP_060110
	NP_001298051; NP_081101; NP_001371051
	Wikidata
View/Edit Human	View/Edit Mouse

Leucine rich repeat containing 16A is a protein that in humans is encoded by the LRRC16A gene.^[5] The gene is also known as LRRC16, CARMIL, CARMIL1 or CARMIL1a.^[5]

Model organisms

*Lrrc16a* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal^[6]
Citrobacter infection	Normal^[7]
All tests and analysis from^[8]^[9]

Model organisms have been used in the study of LRRC16A function. A conditional knockout mouse line, called Lrrc16a^{tm1a(KOMP)Wtsi}^[10]^[11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[12]^[13]^[14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[8]^[15] Twenty two tests were carried out on mutant mice but no significant abnormalities were observed.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000079691 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021338 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "leucine rich repeat containing 16A". Retrieved 2011-12-04.
^ "Salmonella infection data for Lrrc16a". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Lrrc16a". Wellcome Trust Sanger Institute.
^ ^a ^b ^c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading